Mouse ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) ELISA Kit | CLN8 elisa kit
Mouse Protein CLN8, CLN8 ELISA Kit
NCBI and Uniprot Product Information
Uniprot Description
CLN8: Could play a role in cell proliferation during neuronal differentiation and in protection against cell death. Defects in CLN8 are the cause of neuronal ceroid lipofuscinosis type 8 (CLN8). A form of neuronal ceroid lipofuscinosis with onset in childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. Defects in CLN8 are the cause of neuronal ceroid lipofuscinosis type 8 Northern epilepsy variant (CLN8NE). A form of neuronal ceroid lipofuscinosis clinically characterized by epilepsy that presents between 5 and 10 years of age with frequent tonic-clonic seizures followed by progressive mental retardation. Visual loss is not a prominent feature. Intracellular accumulation of autofluorescent material results in curvilinear and granular profiles on ultrastructural analysis.
Protein type: Membrane protein, integral; Cell development/differentiation; Membrane protein, multi-pass; Endoplasmic reticulum; Apoptosis
Cellular Component: membrane; mitochondrion; endoplasmic reticulum; ER-Golgi intermediate compartment; integral to membrane
Biological Process: adult locomotory behavior; mitochondrial membrane organization and biogenesis; photoreceptor cell maintenance; adult walking behavior; age-dependent response to oxidative stress; neuromuscular process controlling posture; negative regulation of transferase activity; neurofilament cytoskeleton organization and biogenesis; visual perception; somatic motor neuron differentiation; phospholipid metabolic process; neuromuscular process controlling balance; associative learning; cholesterol metabolic process; nervous system development; glutamate uptake during transmission of nerve impulse; social behavior; spinal cord motor neuron differentiation; cellular protein metabolic process; cellular protein catabolic process; retina development in camera-type eye; lysosome organization and biogenesis; ceramide metabolic process; musculoskeletal movement; regulation of cell size; cellular macromolecule catabolic process; negative regulation of apoptosis
Disease: Ceroid Lipofuscinosis, Neuronal, 8
Research Articles on CLN8
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Product Notes
The Mouse CLN8 cln8 (Catalog #AAA9339215) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9339215 ELISA Kit recognizes Mouse CLN8. It is sometimes possible for the material contained within the vial of "ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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